Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

67 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Clinical and biochemical assessment of depressive symptoms in patients with Alkaptonuria before and after two years of treatment with nitisinone.
Davison AS, Harrold JA, Hughes G, Norman BP, Devine J, Usher J, Hughes AT, Khedr M, Gallagher JA, Milan AM, J C G H, Ranganath LR. Davison AS, et al. Among authors: hughes at, hughes g. Mol Genet Metab. 2018 Sep;125(1-2):135-143. doi: 10.1016/j.ymgme.2018.07.008. Epub 2018 Jul 19. Mol Genet Metab. 2018. PMID: 30049652
Nitisinone arrests ochronosis and decreases rate of progression of Alkaptonuria: Evaluation of the effect of nitisinone in the United Kingdom National Alkaptonuria Centre.
Ranganath LR, Khedr M, Milan AM, Davison AS, Hughes AT, Usher JL, Taylor S, Loftus N, Daroszewska A, West E, Jones A, Briggs M, Fisher M, McCormick M, Judd S, Vinjamuri S, Griffin R, Psarelli EE, Cox TF, Sireau N, Dillon JP, Devine JM, Hughes G, Harrold J, Barton GJ, Jarvis JC, Gallagher JA. Ranganath LR, et al. Among authors: hughes at, hughes g. Mol Genet Metab. 2018 Sep;125(1-2):127-134. doi: 10.1016/j.ymgme.2018.07.011. Epub 2018 Jul 24. Mol Genet Metab. 2018. PMID: 30055994
Assessing the effect of nitisinone induced hypertyrosinaemia on monoamine neurotransmitters in brain tissue from a murine model of alkaptonuria using mass spectrometry imaging.
Davison AS, Strittmatter N, Sutherland H, Hughes AT, Hughes J, Bou-Gharios G, Milan AM, Goodwin RJA, Ranganath LR, Gallagher JA. Davison AS, et al. Among authors: hughes at, hughes j. Metabolomics. 2019 Apr 29;15(5):68. doi: 10.1007/s11306-019-1531-4. Metabolomics. 2019. PMID: 31037385 Free PMC article.
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
Ranganath LR, Milan AM, Hughes AT, Khedr M, Davison AS, Shweihdi E, Norman BP, Hughes JH, Bygott H, Luangrath E, Fitzgerald R, Psarelli EE, van Kan C, Laan D, Olsson B, Rudebeck M, Mankowitz L, Sireau N, Arnoux JB, Le Quan Sang KH, Jarvis JC, Genovese F, Braconi D, Santucci A, Zatkova A, Glasova H, Stančík R, Imrich R, Rhodes NP, Gallagher JA. Ranganath LR, et al. Among authors: hughes at, hughes jh. J Inherit Metab Dis. 2020 Jul;43(4):737-747. doi: 10.1002/jimd.12181. Epub 2020 Feb 5. J Inherit Metab Dis. 2020. PMID: 31609457
Nitisinone causes acquired tyrosinosis in alkaptonuria.
Khedr M, Cooper MS, Hughes AT, Milan AM, Davison AS, Norman BP, Sutherland H, Jarvis JC, Fitzgerald R, Markinson L, Psarelli EE, Ghane P, Deutz NEP, Gallagher JA, Ranganath LR. Khedr M, et al. Among authors: hughes at. J Inherit Metab Dis. 2020 Sep;43(5):1014-1023. doi: 10.1002/jimd.12229. Epub 2020 Mar 5. J Inherit Metab Dis. 2020. PMID: 32083330
67 results